Prenatal diagnosis of Bardet-Biedl syndrome by targeted second-trimester sonography

P. Dar, G. S. Sachs, S. M. Carter, J. C. Ferreira, H. M. Nitowsky, S. J. Gross

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature. Definitive molecular diagnosis for BBS is not currently available and counseling of affected families is based on the 25 % recurrence risk consistent with autosomal recessive inheritance. Our case presents the first successful use of second trimester targeted sonographic anatomy scanning to prospectively identify a fetus affected with BBS, and indicates that ultrasound can be of critical importance in providing precise as well as timely prenatal diagnosis for families at risk for this serious disorder.

Original languageEnglish (US)
Pages (from-to)354-356
Number of pages3
JournalUltrasound in Obstetrics and Gynecology
Volume17
Issue number4
DOIs
StatePublished - May 20 2001

Keywords

  • Bardet-Biedl syndrome
  • Polydactyly
  • Prenatal diagnosis
  • Sonography
  • Syndactyly

ASJC Scopus subject areas

  • Radiological and Ultrasound Technology
  • Reproductive Medicine
  • Radiology Nuclear Medicine and imaging
  • Obstetrics and Gynecology

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